Journal
SCANDINAVIAN JOURNAL OF IMMUNOLOGY
Volume 64, Issue 2, Pages 137-139Publisher
WILEY
DOI: 10.1111/j.1365-3083.2006.01775.x
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In 1981 we presented a patient with Mycobacterium intracellulare osteomyelitis and depressed monocyte cytotoxicity. It is now demonstrated that the molecular defect was a never-before-described nucleotide deletion at position 794 (794delT) in the interferon-gamma-receptor alpha-1 gene. The genetic defect was passed on to his daughter who was diagnosed with non-tuberculous mycobacterial osteomyelitis at the age of 7 years.
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